Familial translocation t(5;11)(q32;q23) resulting in Jacobsen syndrome and distal trisomy 5q31 in a female patient

A detailed clinical analysis of the patient’s condition was performed. The chromosomes were studied through the GTG-banding analysis and FISH withCri-du-Chat Region Probe - LSI EGR1, LSI D5S23, D5S72

Factorial structure of the PPBS Portuguese version for preschool teachers

A Preschool Play Behavior Scale é um instrumento constituído por 18 itens que expressam diferentes tipos de comportamentos das crianças, em contexto de brincadeira livre com os pares, procurando diferenciar, em particular, tipos de comportamentos não-sociais. O presente estudo teve como objetivo traduzir e analisar a estrutura fatorial do instrumento e as suas características psicométricas. Sessenta educadoras descreveram os comportamentos de 369 crianças (166 raparigas), com idades compreendidas entre os 36 e os 60 meses, e a frequentar escolas de Ensino Particular com fins lucrativos e Instituições Particulares de Solidariedade Social, do Distrito de Lisboa/Portugal. O modelo final de 4 fatores - Comportamento Reticente, Solitário-Passivo, Solitário-Ativo e Brincadeira Social parece ajustar-se adequadamente aos grupos de idade e sexo considerados.info:eu-repo/semantics/publishedVersio

Increased usage of Smartphones in Medicine, an opportunity for Medical Cytogenetics

To carry out a bibliographic review on previously exposed topic and share the experience of the cytogenetics laboratory of the National Center of Medical Genetics in the introduction of smartphones and their use in cytogenetic

Enhanced optical frequency comb generation by pulsed gain-switching of optically injected semiconductor lasers

We report on the experimental generation of broad and flat optical frequency combs (OFC) in a 1550 nm laser diode using gain switching with pulsed electrical excitation together with optical injection. The combination of both techniques allows the generation of high-quality OFCs at a repetition frequency of 500 MHz, showing a low-noise optical spectrum with unprecedent features in terms of width (108 tones within 10 dB) and flatness (56 tones within 3 dB) in comparison with those previously reported for this modulation frequency. The influence of the injection conditions on the OFC quality is studied. Using these two techniques, it has been possible to reduce the separation between tones, generating high spectral performance OFCs with a repetition rateof 100 MHz.Ministerio de Economia y Competitividad of Spain (TEC201565212-C3-1-P, TEC201565212- C3-2-P)

Coral Reef Resilience Index for Novel Ecosystems: A Spatial Planning Tool for Managers and Decision Makers - A Case Study from Puerto Rico

Timely information is critical for coral reef managers and decision-makers to implement sustainable management measures. A Coral Reef Resilience Index (CRRI) was developed with a GIS-coupled decision-making tool applicable for Caribbean coral reef ecosystems. The CRRI is based on a five-point scale parameterized from the quantitative characterization of benthic assemblages. Separate subindices such as the Coral Index, the Threatened Species Index, and the Algal Index also provide specific information regarding targeted benthic components. This case study was based on assessments conducted in 2014 on 11 reef sites located across 3 geographic zones and 3 depth zones along the southwestern shelf of the island of Puerto Rico, Caribbean Sea. There was a significant spatial and bathymetric gradient (p < 0.05) in the distribution of CRRI values indicating higher degradation of inshore reefs. Mean global CRRI ranged from 2.78 to 3.17 across the shelf, ranking them as “fair.” The Coral Index ranged from 2.60 to 3.76, ranking reefs from “poor” to “good,” showing a general cross-shelf trend of improving conditions with increasing distance from pollution sources. Turbidity and ammonia were significantly correlated to CRRI scores. Multiple recommendations are provided based on coral reef conditions according to observed CRRI rankings

A Weakly Supervised Deep Learning Approach for Detecting Malaria and Sickle Cells in Blood Films

Machine vision analysis of blood films imaged under a brightfield microscope could provide scalable malaria diagnosis solutions in resource constrained endemic urban settings. The major bottleneck in successfully analyzing blood films with deep learning vision techniques is a lack of object-level annotations of disease markers such as parasites or abnormal red blood cells. To overcome this challenge, this work proposes a novel deep learning supervised approach that leverages weak labels readily available from routine clinical microscopy to diagnose malaria in thick blood film microscopy. This approach is based on aggregating the convolutional features of multiple objects present in one hundred high resolution image fields. We show that this method not only achieves expert-level malaria diagnostic accuracy without any hard object-level labels but can also identify individual malaria parasites in digitized thick blood films, which is useful in assessing disease severity and response to treatment. We demonstrate another application scenario where our approach is able to detect sickle cells in thin blood films. We discuss the wider applicability of the approach in automated analysis of thick blood films for the diagnosis of other blood disorders

International fisheries threaten globally endangered sharks in the Eastern Tropical Pacific Ocean: the case of the Fu Yuan Yu Leng 999 reefer vessel seized within the Galápagos Marine Reserve

Shark fishing, driven by the fin trade, is the primary cause of global shark population declines. Here, we present a case study that exemplifies how industrial fisheries are likely depleting shark populations in the Eastern Tropical Pacific Ocean. In August 2017, the vessel Fu Yuan Yu Leng 999, of Chinese flag, was detained while crossing through the Galápagos Marine Reserve without authorization. This vessel contained 7639 sharks, representing one of the largest seizures recorded to date. Based on a sample of 929 individuals (12%), we found 12 shark species: 9 considered as Vulnerable or higher risk by the IUCN and 8 listed in CITES. Four species showed a higher proportion of immature than mature individuals, whereas size-distribution hints that at least some of the fishing ships associated with the operation may have been using purse-seine gear fishing equipment, which, for some species, goes against international conventions. Our data expose the magnitude of the threat that fishing industries and illegal trade represent to sharks in the Eastern Tropical Pacific Ocean

MAGIC J0616+225 as delayed TeV emission of cosmic-rays diffusing from SNR IC 443

We present a theoretical model that explains the high energy phenomenology of the neighborhood of SNR IC 443, as observed with the Major Atmospheric Gamma Imaging Cherenkov (MAGIC) telescope and the Energetic Gamma-Ray Experiment Telescope (EGRET). We interpret MAGIC J0616+225 as delayed TeV emission of cosmic-rays diffusing from IC 443 and interacting with a known cloud located at a distance of about 20 pc in the foreground of the remnant. This scenario naturally explains the displacement between EGRET and MAGIC sources, their fluxes, and their spectra. We compare this model with others recently presented, and discuss how it can be tested with observations by the Gamma-ray Large Area Telescope (GLAST).Comment: Accepted for publication in MNRAS Letter

Planetary Nebulae: Observational Properties, Mimics, and Diagnostics

The total number of true, likely and possible planetary nebulae (PN) now known in the Milky Way is nearly 3000, double the number known a decade ago. The new discoveries are a legacy of the recent availability of wide field, narrowband imaging surveys, primarily in the light of H-alpha. In this paper, we summarise the various PN discovery techniques, and give an overview of the many types of objects which mimic PN and which appear as contaminants in both Galactic and extragalactic samples. Much improved discrimination of classical PN from their mimics is now possible based on the wide variety of high-quality multiwavelength data sets that are now available. We offer improved taxonomic and observational definitions for the PN phenomenon based on evaluation of these better diagnostic capabilities. However, we note that evidence is increasing that the PN phenomenon is heterogeneous, and PN are likely to be formed from multiple evolutionary scenarios. In particular, the relationships between some collimated symbiotic outflows and bipolar PN remain uncertain.Comment: 25 pages, 6 figures; presentation at the workshop on the Legacies of the Macquarie/AAO/Strasbourg H-alpha Planetary Nebula project, accepted by the Publications of the Astronomical Society of Australia (PASA